E28del (p.Glu28del) variant of ALMS1 (Q8TCU4)
E28del (p.Glu28del) in ALMS1 (Q8TCU4) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
E28del (p.Glu28del) variant details
- rs55889738
- gnomAD 2-73385903-TGGA-T
- Inframe Deletion
- CADD 21.50
- Population evidence available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)